Variant report

Variant	rs34157680
Chromosome Location	chr5:43070356-43070357
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43064995..43071284-chr5:43119667..43123996,15	MCF-7	breast:
2	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
3	chr5:43041801..43042395-chr5:43070350..43070882,2	MCF-7	breast:
4	chr5:43068783..43070775-chr5:43235999..43238082,2	K562	blood:
5	chr5:43070103..43072247-chr5:43117148..43119199,2	K562	blood:
6	chr5:43070295..43071835-chr5:43373758..43376387,2	MCF-7	breast:
7	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:

Variant related genes	Relation type
ENSG00000177721	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1084520	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550288	1.00[ASN][1000 genomes]
rs13156403	1.00[ASN][1000 genomes]
rs13156729	1.00[ASN][1000 genomes]
rs13158147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160133	1.00[ASN][1000 genomes]
rs13167375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169195	1.00[ASN][1000 genomes]
rs13170322	1.00[ASN][1000 genomes]
rs13170959	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171192	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174226	1.00[ASN][1000 genomes]
rs13175754	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176080	1.00[ASN][1000 genomes]
rs13180496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186091	1.00[ASN][1000 genomes]
rs17303482	1.00[ASN][1000 genomes]
rs2085100	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34215864	1.00[ASN][1000 genomes]
rs34345245	1.00[ASN][1000 genomes]
rs34517361	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34810824	1.00[ASN][1000 genomes]
rs34967469	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030460	1.00[ASN][1000 genomes]
rs35197809	1.00[ASN][1000 genomes]
rs35322710	1.00[ASN][1000 genomes]
rs35334781	1.00[ASN][1000 genomes]
rs35484387	1.00[ASN][1000 genomes]
rs35594379	1.00[ASN][1000 genomes]
rs35756781	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35764948	1.00[ASN][1000 genomes]
rs36048737	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122053	1.00[ASN][1000 genomes]
rs503965	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs505573	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614386	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632730	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627567	1.00[ASN][1000 genomes]
rs71627568	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34157680	ZNF131	Cis_1M	lymphoblastoid	RTeQTL
rs34157680	ZNF131	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43067800-43071200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:43068000-43077600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:43068200-43074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:43068400-43070800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:43068600-43070400	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr5:43068600-43070600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:43068600-43071200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:43068600-43071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:43068600-43082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:43068800-43070400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:43068800-43070400	Enhancers	Fetal Brain Male	brain
12	chr5:43068800-43070800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr5:43068800-43070800	Weak transcription	Esophagus	oesophagus
14	chr5:43068800-43070800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:43068800-43071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:43068800-43071000	Weak transcription	Aorta	Aorta
17	chr5:43069000-43070600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:43069000-43070800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:43069000-43070800	Weak transcription	Fetal Kidney	kidney
20	chr5:43069000-43071000	Weak transcription	Gastric	stomach
21	chr5:43069000-43081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:43069200-43070600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:43069200-43070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:43069200-43070800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr5:43069200-43070800	Weak transcription	Brain Anterior Caudate	brain
26	chr5:43069200-43070800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:43069200-43071800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:43069200-43071800	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr5:43069200-43074200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:43069400-43070400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:43069400-43070400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:43069400-43070400	Weak transcription	Brain Germinal Matrix	brain
33	chr5:43069400-43070400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:43069400-43070600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr5:43069400-43070600	Weak transcription	Brain Substantia Nigra	brain
36	chr5:43069400-43070600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:43069400-43070600	Weak transcription	Hela-S3	cervix
38	chr5:43069400-43070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:43069400-43070800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:43069400-43070800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:43069400-43070800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:43069400-43071000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:43069400-43071000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr5:43069400-43071000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:43069400-43071200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:43069400-43071200	Weak transcription	Fetal Brain Female	brain
47	chr5:43069400-43072200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:43069400-43075800	Strong transcription	Fetal Stomach	stomach
49	chr5:43069400-43082800	Weak transcription	Colonic Mucosa	Colon
50	chr5:43069400-43087400	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links